A2S (p.Ala2Ser) variant of RET (P07949)
A2S (p.Ala2Ser) in RET (P07949) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
A2S (p.Ala2Ser) variant details
- p.Ala2Ser
- gnomAD 10-43077262-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.527
- REVEL 0.31
- MetaLR 0.89
- MetaSVM 0.73
- CADD 22.90
- PolyPhen-2 0.03
- SIFT 0.17
- Population evidence available
- Structural context available
- Literature evidence available